Yin and Yang1
Yin and yang 1 (YY1) is a zinc-finger transcription factor with critical roles in physiological development and malignancy. YY1 acts both as a repressor and an activator of gene expression. We have identified 23 patients with de novo mutations or deletions of YY1 and phenotypic features that define a novel haploinsufficiency neurodevelopmental syndrome (Gabriele-DeVries syndrome, OMIM:617557), characterized by cognitive impairment, behavioral alterations, intrauterine growth retardation, feeding problems, and various congenital malformations. Our current work is focused on the understanding of the molecular mechanisms underlying this pathology through patients-derived iPSCs modeling of disease-relevant cell types.